Exome-based search for recurrent disease-causing alleles in Russian population [0.03%]
基于外显子组的俄罗斯人群反复致病突变基因型的研究
Grigoriy A Yanus,Tatiana A Akhapkina,Aldon J Whitehead et al.
Grigoriy A Yanus et al.
Exomes of 27 Russian subjects were analyzed for the presence of medically relevant alleles, such as protein-truncating variants (PTVs) in known recessive disease-associated genes and pathogenic missense mutations included in the ClinVar dat...
Validation of concurrent preimplantation genetic testing for polygenic and monogenic disorders, structural rearrangements, and whole and segmental chromosome aneuploidy with a single universal platform [0.03%]
单平台并发验证多基因和单基因疾病、结构重排以及整倍体和片段染色体非整倍体的植入前遗传学检测的有效性
Nathan R Treff,Raymond Zimmerman,Elan Bechor et al.
Nathan R Treff et al.
Preimplantation genetic testing (PGT) has been successfully applied to reduce the risk of miscarriage, improve IVF success rates, and prevent inheritance of monogenic disease and unbalanced translocations. The present study provides the fir...
Compound heterozygous Pkd1l1 variants in a family with two fetuses affected by heterotaxy and complex Chd [0.03%]
PKD1L1复合杂合变异致两胎儿异位症及复杂先天性心脏病家族筛查
Anna Le Fevre,Julia Baptista,Sian Ellard et al.
Anna Le Fevre et al.
Heterotaxy and congenital heart defects associated with pathogenic variants in the PKD1L1 gene (autosomal visceral heterotaxy type 8, MIM 617205) has been reported in only four individuals from three unrelated families. We describe a furthe...
Anna Middleton,Christine Patch,Barbara Biesecker
Anna Middleton
Unusual clinical description of adult with Timothy syndrome, carrier of a new heterozygote mutation of CACNA1C [0.03%]
Timothy综合征成人携带者CACNA1C新杂合突变的临床特征描述的一例罕见报道
Cindy Colson,Hervé Mittre,Adeline Busson et al.
Cindy Colson et al.
CANAC1C encodes for the main cardiac L-type calcium channel and mutations on it lead to a prolonged QT interval in Timothy Syndrome (TS). We provide a new de novo constitutional heterozygote missense variation in CACNA1C in a living adult w...
Abnormal cleavage and developmental arrest of human preimplantation embryos in vitro [0.03%]
人类胚胎体外异常卵裂与发育阻滞
Abeo McCollin,Rebecca L Swann,Michael C Summers et al.
Abeo McCollin et al.
Despite improvements in culture conditions and laboratory techniques still only about 50% of human embryos reach the blastocyst stage of development in vitro. While many factors influence embryo development, aberrant cleavage divisions have...
Next generation sequencing in recurrent pregnancy loss-approaches and outcomes [0.03%]
复发性流产的下一代测序方法及结果分析
Evica Rajcan-Separovic
Evica Rajcan-Separovic
Next generation sequencing (NGS) has revolutionized the diagnosis of postnatal genetic diseases, but so far has been used less frequently to study reproductive disorders. Here we provide an overview of approaches and outcomes of genome sequ...
Point of View: An evolution from genetic counselling to genomic counselling [0.03%]
观点栏目：遗传咨询到基因组咨询的发展演变
Christine Patch,Anna Middleton
Christine Patch
The highly specialist, hub and spoke model of Clinical Genetics, as described by the Royal College of Physicians in the UK in 1991, is under the spotlight. Whilst this has underpinned the successful delivery of genetics services historicall...
Further delineation of CDC45-related Meier-Gorlin syndrome with craniosynostosis and review of literature [0.03%]
CDC45相关Meier-Gorlin综合征的颅缝早闭特征及文献复习
Chun Yi Ting,Neha Singh Bhatia,Jiin Ying Lim et al.
Chun Yi Ting et al.
Meier-Gorlin syndrome (MGS) is a rare autosomal recessive disorder characterized by the triad of short stature, microtia and absent or small patellae. We report on a patient with MGS secondary to biallelic mutations in CDC45 detected on who...
Novel EXOSC3 pathogenic variant results in a mild course of neurologic disease with cerebellum involvement [0.03%]
新型EXOSC3致病突变导致以小脑受累为主的良性神经病变病程
Diana Le Duc,Susanne Horn,Rami Abou Jamra et al.
Diana Le Duc et al.
EXOSC3-related autosomal recessive neurodevelopmental disorders are rare entities with variable clinical course and prognosis. They are characterized by hypoplasia of cerebellar structures and pons, degeneration of the anterior horn cells a...